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episodic ataxia type 1
Summary
- Definition
- An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1.
- Super Class
- episodic ataxia
External Links
- Disease Ontology
- DOID:0050989
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q09470 | Potassium voltage-gated channel subfamily A member 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16388 | Potassium voltage-gated channel subfamily A member 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P10499 | Potassium voltage-gated channel subfamily A member 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08510 | Potassium voltage-gated channel protein Shaker |
